Julie and Ken Bihn of Olmsted Falls are living every parent’s worst nightmare: They are watching their daughter die.
But not without a fight.
Now 10, Dakota Bihn was diagnosed with juvenile onset Tay-Sachs disease in September 2005, several years after her parents started wondering why their happy-go-lucky, daredevil blond and blue-eyed daughter was starting to stutter, become clumsy, and fall often.
When she slipped behind her peers developmentally, the Bihns asked their school district to evaluate her. “Every kid develops differently; don’t worry,” they were told.
But six months later, the district put Dakota in a classroom for preschoolers with special needs. As Dakota’s abilities continued to deteriorate, the Bihns began visiting doctors, seeking answers.
The Bihns, who are not Jewish, were stunned when a Cleveland Clinic neurologist, Dr. Marvin Natowicz, finally came up with the diagnosis. After talking about cells and enzymes for a half hour, the neurologist, a tear rolling down his face, slid a piece of paper across the table. Dakota had juvenile Tay-Sachs, a fatal disease the Bihns had never heard of.
“Will she live to 30?” Ken recalls asking. Natowicz shook his head.
For weeks, Julie, now 41, and Ken, now 45, cried. “We crawled into a hole after her diagnosis,” Julie says. “Some people don’t crawl out of it.”
The Bihns emerged and started to do research. In 2007, they launched the Cure Tay-Sachs Foundation to find a cure for the genetic disease killing their daughter.
In the beginning, Ken assumed “there must be millions of dollars in funding” available for Tay-Sachs research. He learned to his surprise that there was only $85,000 a year in federal funding.
Ken set out to change that total.
What is Tay-Sachs?
Usually thought of as Jewish genetic disease, Tay-Sachs is a progressive degenerative neurological disorder. The absence – or very low amount – of an enzyme, Hex A, allows fats or lipids to build up in brain cells. Without Hex A to carry away the lipids, the brain cells clog and eventually die, destroying the central nervous system. In time, the child ends up mute, blind, developmentally disabled, paralyzed and, eventually, non-responsive to her surroundings.
One out of every 27 Ashkenazi Jews carries the gene mutation causing Tay-Sachs. French-Canadians and Louisiana Cajuns have a similar incidence. This compares to a carrier rate of one of every 250 non-Jewish Americans and Sephardic Jews, making about 1.2 million Americans carriers.
Since Dakota’s diagnosis, the Bihns have learned more about their genetic tree. Ken’s father, who is of German descent, is a carrier. And Julie believes she has a Jewish maternal great-grandfather.
While children with classic infantile Tay-Sachs show symptoms after several months of life and usually die before they are 5, Dakota is one of four or five children in the country with the rare juvenile onset form. She is unlikely to live past 15. The disease also can manifest itself in adults (see related story, page X).
Since the enzyme defect was identified in 1969, screening of young adults of childbearing age to prevent the birth of babies with Tay-Sachs has been a focus of the Jewish community. Testing for the presence of Hex A in the blood has dramatically decreased the incidence among Jews of Tay-Sachs babies from 25 or 30 a year in the U.S. to less than 10, says New York neurologist Dr. Edwin Kolodny. He was part of the NIH lab that detected the enzyme involved in Tay-Sachs.
Today, among the non-Jewish population in North America there are about 20 children born annually with Tay-Sachs.
In September 2005, Dr. Natowicz told Julie and Ken to take Dakota home, make her comfortable, deal with the symptoms as they occur, and enjoy the time they have left with her. There is no treatment or cure, Natowicz said. But the Bihns couldn’t just wait for their child to die.
Four months after Dakota’s diagnosis, she underwent a cord-blood transplant at Duke University Medical Center.
Some doctors had warned the Bihns that the procedure, which requires grueling chemotherapy to kill the blood system so it can be replaced with cells carrying Hex-A, would not help Dakota. The big challenge is to cross the blood-brain barrier, necessary to get the Hex A-laden blood into the brain to stop the damage.
But the highly experimental procedure, which transplants blood from a healthy umbilical cord, had helped children with other lipid-storage diseases. Julie and Ken believed it offered the only chance their daughter had to beat Tay-Sachs.
After a difficult six months following the blood transplant, Dakota left Duke and went home. Two other children with Tay-Sachs who had the procedure around the same time have since died. Dakota now has a higher level of Hex A in her blood than before the transplant, and Ken hopes that will make her live longer. But her degenerative symptoms have continued to worsen.
“Did we slow the disease? Or accelerate the disease?” Ken asks. “One doctor said she’d be vegetative by the end of 2006. And she’s not, even now.”
A small orange bow secures Dakota’s wispy blond hair, the remnants of the long locks she lost during the chemotherapy for her cord-blood transplant. Colorful stuffed animals twist around an IV pole, the only visible sign of illness in the Bihns’ home.
Holding her stuffed Minnie Mouse, a souvenir from the family’s annual visit to Disney World, Koty, as her family calls her, sometimes smiles when her name is called. But often she just stares into space. The Bihns think she understands what they say to her.
Dakota can no longer talk, although the family says she grunts occasionally. She can stand, but only with support, and can move her hands a little to pick up toys, but it takes several tries. She’s also losing the ability to control her eyes. A tube into her stomach provides daily nutrition.
Dakota likes to watch cartoons, goes to her sister Bailey’s soccer games, and attends an Olmsted Falls public school in a special education class. The teachers are working on therapies with her hands, although Ken says she has a hard time following instructions. She also gets occupational and physical therapy and aqua therapy.
Eventually, Ken says she’ll go blind, have difficulty breathing and swallowing, and likely develop an infection or pneumonia, which will lead to her death.
Despite her devastating illness, Dakota “has some inner power,” says her dad. “She smiles a lot for a kid in her situation. She still giggles sometimes. She’s not a pouter.”
Bailey, 13, who is a carrier of the juvenile Tay-Sachs gene, plants a kiss on her sister’s cheek. “If I’m having a bad day, she smiles to cheer me up. She knows something is wrong.”
Although she’s not comfortable talking in front of large groups, Julie says she “doesn’t mind fundraising in our community. There’s such support here.”
“There are only two choices,” Ken notes. “Curl up in a ball or fight back. I’m not a give-up guy. That would be a disservice to Dakota and the fight she’s had.”
Doctors don’t know how long Dakota has to live, although they estimate five more years, her father says. “With Tay-Sachs, the brain cells have to be 90% compromised before you even start to show symptoms.”
Because of Dakota and Tay-Sachs, Ken thinks he is now a better person.
“Maybe it’s the shortness of life, the preciousness,” he reflects. “I meet these kids (with Tay-Sachs), I embrace these kids, I cry when they pass. It motivates me to do what I do.”
Cure Tay-Sachs Foundation
An accountant who co-owns a company making test equipment for the transportation industry, Ken says his previous passion was sports and watching TV. But since Dakota’s diagnosis, he has led the charge against Tay-Sachs with a zeal he admits is his coping mechanism.
Initially, he tried to interest big philanthropies, like the Bill Gates foundation, in his cause. Every one turned him down, he says. “They want worldwide problems, like hunger.”
So in summer 2007, Julie and he started a charitable foundation, raising money through small events, such as a fundraiser at a restaurant or a bar that donates a percentage of sales to the Cure Tay-Sachs Foundation. There are golf outings, bake sales, spaghetti dinners and concerts organized by community groups.
The largest fundraiser is the annual sports auction. Professional athletes in Cleveland, including Eric Steinbach of the Browns, Grady Sizemore of the Indians, and former (and expected soon to return) Cavaliers center Zydrunas Ilgauskas, have donated signed jerseys and other memorabilia. In 2009, the auction raised $70,000.
Julie organizes Dakota’s Dream, the foundation’s second-biggest moneymaker. With Bailey’s help, kids in Olmsted Falls carry colorful pails and solicit door-to-door. Last year, they collected $26,000.
Families in other states have also contributed funds. A family with a Tay-Sachs child in Boise, Idaho, raised $11,000 that they donated to CTSF. In New Jersey, a Tay-Sachs family held a trick-or-treat fundraiser. In Illinois, a benefit concert raised money.
In 27 months, the Bihns amassed over $1.2 million for Tay-Sachs research.
Now that screening for carriers has significantly reduced the number of kids dying from Tay-Sachs, it’s almost as if the disease “has reached an acceptable level of mortality,” says Ken. “Well, for me it hasn’t. I’ve got skin in the game.”
Gene therapy shows promise
Because there’s a single gene mutation that causes each variant of the disease, Tay-Sachs is an ideal subject for research. Furthermore, the gene-therapy technique developed to cure Tay-Sachs may also treat other lipid-storage diseases, and even Parkinson’s or Alzheimer’s, neurological disorders widespread in the general population.
Last August, largely due to the efforts of the CTSF, the National Institutes of Health awarded $3.5 million over four years to a consortium researching gene therapy to cure Tay-Sachs. It’s the treatment that appears to have the most promise of success, says Kolodny, chairman of the neurology department at New York University and a Tay-Sachs expert.
Researchers are developing vectors – rapidly replicating viruses – with properties to introduce the gene into the brain and carry Hex A into the cells that need it, Kolodny says. The viral vector would be injected into the brain, so it could get past the blood-brain barrier, and create little Hex A factories. The immune system would be suppressed so the body can’t fight off the virus.
Researchers are “aiming for a cure for Tay-Sachs within the next four years,” Kolodny says. To reach that goal will take enormous effort from scientists, the public and the NIH, he adds. It also requires a successful trial in a large animal model.
Animal model increases hopes
The NIH funding is going to the Tay-Sachs Gene Therapy Consortium, which is working with cats that have Sandhoff disease, a variant of Tay-Sachs, says Kolodny, an adviser to the group. His role is to help develop a true animal model for Tay-Sachs and bring it to the lab.
For infantile Tay-Sachs, the therapy should be given in the initial months of life when the child first shows symptoms. The disease is present in the fetus, Kolodny says. By the time the child is 2, gene therapy may prolong survival, but it won’t lead to improved quality of life because there’s already too much damage.
If successful in Tay-Sachs, gene therapy should also work for the approximately 50 lipid-storage diseases, where a single enzyme fails to break down a product necessary for metabolism. Many of these diseases are more common in Ashkenazi Jews.
From there, with gene therapy “we can approach four or five thousand other genetic diseases that need correction,” Kolodny says.
He’s now working to develop a herd of Jacob sheep, a primitive variety that carries a Tay-Sachs variant and would be useful subjects for gene therapy trials. The primitive sheep, with black and white spots and horns in both males and females, are identical to those described in Genesis in the Bible, the ones that Laban gave his son-in-law Jacob.
One breeder of the rare, purebred sheep – only several thousand exist in the world – wanted to know why some of his sheep died, and he traced their lineage back to the ewe and ram carriers. Researchers are now screening other Jacob sheep and are breeding carriers with carriers in order to get lambs with the disease.
The sheep brain is about the same size as a 1-year-old child’s, and the gene and protein sequence are very close to that of humans, Kolodny says. Once the gene therapy trials begin, scientists will inject the sheep with the human gene, hoping the animal will produce the needed enzyme and that it will not be discarded by the sheep immune reaction.
Despite his high expectations for gene therapy, Kolodny cautions that you can’t hurry the research. “Parents have children dying of Tay-Sachs. They say to us, why inject sheep? Inject my child. No human study committee will allow that until the benefits outweighs the risk. Optimistically, we’re looking at four years,” adds Kolodny. “I’m not quitting until we have a cure.”
To find out more about Tay-Sachs and to make a donation to the Cure Tay-Sachs Foundation, go to www.curetay-sachs.org or call 216-812-5855.
Local man lives with late-onset Tay-Sachs
When David Schonberg was cramming for finals during his freshman year in college, he had what his father Alan calls a nervous breakdown. A psychiatrist diagnosed David with schizophrenia, and he spent eight years in an institution and a clinic.
He returned to Cleveland at age 26 and worked in low-level positions for his father, then chairman of Management Recruiters International. Unlike his three athletic and socialable siblings, David was ungainly, clumsy and stuttered, Alan Schonberg says.
But at about age 45, David started to decline, his father says. He needed a walker. He could no longer drive because he had uncontrollable tremors in his hands. There were frequent choking episodes and cognitive deterioration.
Dr. Robert Daroff, a University Hospitals neurologist, sent David’s blood to the Mayo Clinic to rule out three rare diseases. David’s test came back positive for one of those: adult late-onset Tay-Sachs.
Symptoms typically develop between age 18 and 40, causing debilitation but not usually death. It can show up in older individuals, too, depending on the amount of the enzyme Hex A present in the blood.
David is now 51 and has an apartment in an assisted living community, Schonberg says. There are only about 150 late-onset patients in the country, with two here in Cleveland. Doctors think there probably are quite a few more, but they are often undiagnosed or misdiagnosed.
Schonberg’s first wife and the mother of his four children was a German Catholic who converted to Judaism. The couple, who met while he was stationed in Germany after World War II, divorced in 1972. Two of their other three children are carriers of late-onset Tay-Sachs; one is not. The gene distribution in the family exactly mirrors the expected pattern for a recessive autosomal disease.
Since there is no cure yet, the best physicians can offer David is treatment of his symptoms, says his physician Dr. Barbara Shapiro, a neurologist at University Hospitals Case Medical Center.
Thirty percent to 50% of adult Tay-Sachs patients develop schizophrenia or bi-polar disorder, often the first sign of the disease, Shapiro says. Patients also have tremors, weakness or balance problems that physical therapy or walkers can help. Some have trouble swallowing and need a feeding tube.
There’s a small but promising adult Tay-Sachs trial now going on in the lab of Dr. Edward Kolodny, using an old malaria drug to “chaperone” or attach to the Hex A to make the enzyme more usable.
Kolodny, chairman of the neurology department at New York University, treats about 25 patients in North America and Israel who have late-onset Tay-Sachs. Gene therapy may help treat the chronic disease, he says.
Whether or not it will reverse the effects of Tay-Sachs is the big question, Shapiro says. But for adult Tay-Sachs patients, just slowing down the disease “would be phenomenal.”
Schonberg would like the Jewish community, most of whom live on the East Side, to actively support the Cure Tay-Sachs Foundation, whose base is on the West Side. “Tay-Sachs is a Jewish disease. The research going on ultimately will benefit more Jewish people than any other collective group.”
– M.H. Karfeld
Originally published March 19, 2010